Variant report

Variant	rs543623864
Chromosome Location	chr2:99551966-99551967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99523789..99526225-chr2:99550557..99552954,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196872	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv874697	chr2:99520608-99558970	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv834310	chr2:99533832-99709999	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv1007718	chr2:99542281-99729107	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3339215	chr2:99550420-99554818	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3412425	chr2:99551545-99553993	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99549400-99553800	Active TSS	Brain Anterior Caudate	brain
2	chr2:99550000-99553800	Active TSS	Brain Angular Gyrus	brain
3	chr2:99550800-99553200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr2:99551200-99553800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:99551200-99554000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:99551400-99552000	Enhancers	Esophagus	oesophagus
7	chr2:99551400-99552000	Bivalent Enhancer	Fetal Brain Female	brain
8	chr2:99551400-99552000	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr2:99551400-99552200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr2:99551400-99552200	Flanking Active TSS	HMEC	breast
11	chr2:99551400-99553800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
12	chr2:99551600-99552000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr2:99551600-99552000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:99551600-99552000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
15	chr2:99551600-99552000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
16	chr2:99551600-99552000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:99551600-99552000	Bivalent Enhancer	Liver	Liver
18	chr2:99551600-99552000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr2:99551600-99552000	Bivalent Enhancer	HepG2	liver
20	chr2:99551600-99552200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr2:99551600-99552200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
22	chr2:99551600-99552200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
23	chr2:99551600-99552200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
24	chr2:99551600-99552200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
25	chr2:99551600-99552200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
26	chr2:99551600-99552200	Flanking Bivalent TSS/Enh	NHEK	skin
27	chr2:99551600-99552800	Bivalent/Poised TSS	Right Ventricle	heart
28	chr2:99551800-99552000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:99551800-99552000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
30	chr2:99551800-99552000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
31	chr2:99551800-99552000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:99551800-99552000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr2:99551800-99552000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:99551800-99552000	Bivalent Enhancer	Adipose Nuclei	Adipose
35	chr2:99551800-99552000	Active TSS	Brain Substantia Nigra	brain
36	chr2:99551800-99552000	Bivalent Enhancer	Colonic Mucosa	Colon
37	chr2:99551800-99552000	Bivalent Enhancer	Colon Smooth Muscle	Colon
38	chr2:99551800-99552000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr2:99551800-99552000	Active TSS	Lung	lung
40	chr2:99551800-99552000	Active TSS	Pancreas	Pancrea
41	chr2:99551800-99552000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
42	chr2:99551800-99552000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr2:99551800-99552200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr2:99551800-99552200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
45	chr2:99551800-99552200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
46	chr2:99551800-99552200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
47	chr2:99551800-99552200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
48	chr2:99551800-99552200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:99551800-99552200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:99551800-99552200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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